Symptoms and Causes of Metachromatic Leukodystrophy Essay

Symptoms and Causes of Metachromatic Leukodystrophy Essay

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Before going into the topic at hand, we must first define leukodystrophy. These are genetic disorders that damage the growth of the myelin sheath, a substance composed of fats and proteins. Metachromatic Leukodystrophy, also termed MLD, comes from the words: meta meaning change, chromatic denoting color, leuko for white matter and dystrophy meaning degeneration. It therefore means the degeneration in the white matter of the brain and a color in the Central Nervous System is found which supposedly should not be there. It affects nerves throughout the Peripheral Nervous System and Central Nervous System. It is not contagious but it can only be passed on through a birth of a child and there is currently no cure for this disorder.
MLD, a type of lipid storage disease, is the result of a buildup of abnormal lipids that interferes with the normal fats and proteins in the myelin sheath. People who are diagnosed with MLD lack Arylsulfatase-A (ARSA), an enzyme in their blood. Without this enzyme, sulfatides will build up in the white matter of the brain and Central Nervous System which results in permanent damage to nerves. The sulfatides will also build up in the visceral organs and will be expelled at high levels in the urine. MLD can also be caused by a defect in Saposin B, also known as the cerebroside sulfate activator, a protein required for ASA to function properly.
MLD was first called Greenfield's disease. MLD was first reported in 1933, credited to Dr. Joseph Godwin Greenfield (1884-1958), a professor of pathology and clinical medicine in London, UK. The first published articles on MLD were in the early 1960's and the first experimental bone marrow transplant treatment was in the early 1980's.


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...patient, and the protein is adopted into the deficient cells, allowing sulfatides in those cells to be broken down. Still, this is only useful for those with very mild neurological symptoms. This treatment can decelerate the disease progression. Researchers are working on improvements in the areas of improved bone marrow transplants, enzyme replacement therapy, gene therapy, and cell line studies.

Works Cited

Metachromatic Leukodystrpophy. (n.d.). In Brave Community. Retrieved from

National Institute of Neurological Disorders and Stroke. 2012. Retrieved from
MLD-101 … A Layperson’s Overview. (n.d.). Retrieved from

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